Monogenic causes account for up to 20% of nephrolithiasis instances and are crucial for developing targeted treatments. Whole-exome sequencing, genome-wide association, candidate gene, and in vitro and animal functional studies are crucial to identify these mutations. Therapies targeting monogenic variants, such as RNA-interference-based treatments, have been successfully used to treat monogenic disorders.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11648848 | PMC |
http://dx.doi.org/10.1038/s41585-024-00880-0 | DOI Listing |
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